rs111033647
A SNP in the GALT gene on chromosome 9. Its most notable genotype is A;A: Galactosemia (predicted); see discussion
- Gene
- GALT
- Location
- Chr 934,647,136 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadGalactosemia (predicted); see discussion
- A;GBadCarrier of a GALT gene mutation
- G;GGoodcommon in clinvar
- G;TBadCarrier of a GALT gene mutation
- T;TBadGalactosemia (predicted); see discussion
On SNPedia: (A;A), (A;G), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GALT SNPs
- rs75391579G;GGalactosemia (predicted); see discussionVery important
- rs111033686T;TGalactosemia (predicted); see discussionVery important
- rs111033690T;TGalactosemia (predicted); see discussionVery important
- rs111033709A;AGalactosemia (predicted); see discussionVery important
- rs111033715C;CGalactosemia (predicted); see discussionVery important
- rs111033726C;CGalactosemia (predicted); see discussionVery important
- rs111033728C;CGalactosemia (predicted); see discussionVery important
- rs111033744C;CGalactosemia (predicted); see discussionVery important
Notes
From SNPedia
Notes
c.130G>T (p.Val44Leu) and c.130G>A (p.Val44Met); both are considered pathogenic in ClinVar 23andMe name for c.130G>A: i5002980
A;A
See discussion at GALT gene; condition is treated by dietary modifications.
A;G
Unaffected in absence of a second GALT gene mutation; see discussion at the GALT gene page.
G;T
Unaffected in absence of a second GALT gene mutation; see discussion at the GALT gene page.
T;T
See discussion at GALT gene; condition is treated by dietary modifications.
Source and license
Adapted from rs111033647 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.